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Effects of long-term cysteamine treatment in patients with cystinosis
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. Patients with infantile nephropathic cystinosis, the most...
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| Publicado no: | Pediatr Nephrol |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6394685/ https://ncbi.nlm.nih.gov/pubmed/29260317 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-017-3856-4 |
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